Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric pseudo-obstruction syndrome v0.216 | ERBB3 | Achchuthan Shanmugasundram commented on gene: ERBB3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.29 | ERBB3 | Achchuthan Shanmugasundram Publications for gene: ERBB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.28 | ERBB3 | Achchuthan Shanmugasundram Phenotypes for gene: ERBB3 were changed from to Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.27 | ERBB3 | Achchuthan Shanmugasundram Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.26 | ERBB3 | Achchuthan Shanmugasundram Classified gene: ERBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.26 | ERBB3 | Achchuthan Shanmugasundram Gene: erbb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.25 | ERBB3 | Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | ERBB3 | Eleanor Williams reviewed gene: ERBB3: Rating: ; Mode of pathogenicity: ; Publications: 33720042; Phenotypes: Aganglionosis, hypoganglionosis, and intestinal smooth muscle abnormalities; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | ERBB3 |
Eleanor Williams gene: ERBB3 was added gene: ERBB3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ERBB3 was set to |